Canonical Allele Identifier: CA3740319
Gene: NOTCH4 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32222843T>C
GRCh37 chr6:g.32190620T>C
gnomAD v2:
6:32190620 T / C
gnomAD v3:
6:32222843 T / C
gnomAD v4:
chr6-32222843-T-C
Joint Max Group AF 0.55431545 (EAS)
Genomes Max Group AF 0.55588789 (EAS)
Exomes Max Group AF 0.55226889 (EAS)
ClinVar RCV:
RCV001720779
ClinVar Variation:
1294875
dbSNP:
3134931
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32222843T>C , CM000668.2:g.32222843T>C GRCh38
NC_000006.11:g.32190620T>C , CM000668.1:g.32190620T>C GRCh37
NC_000006.10:g.32298598T>C NCBI36
NG_028190.1:g.6225A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.156-37A>G MANE Select ENSP00000364163.3:n.156-37A>G
ENST00000473562.1:n.285-37A>G
NM_004557.3:c.156-37A>G NP_004548.3:n.156-37A>G
NR_134949.1:n.295-37A>G
NR_134950.1:n.295-37A>G
NM_004557.4:c.156-37A>G MANE Select NP_004548.3:n.156-37A>G
NR_134949.2:n.295-37A>G
NR_134950.2:n.295-37A>G
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